Sugi Variant

Sugi Variant/PROM1

PROM1 — 1251 ClinVar variants

All ClinVar germline PROM1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 548 flagged for review →

88 Pathogenic · 25 Pathogenic/Likely pathogenic · 59 Likely pathogenic · 98 Conflicting · 41 Benign · 11 Benign/Likely benign · 309 Likely benign · 620 Uncertain significance

Full PROM1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 548

Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, not a reclassification.

Predictors vs ClinVar 3

ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.

Predictors agree, ClinVar conflicts 43

ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.

Predictors lean, ClinVar uncertain 418

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification. · showing the 150 best-reviewed of 418

Predictors split 84

The independent predictors disagree with each other — read with care.

All PROM1 variants

Pathogenic 88

Pathogenic/Likely pathogenic 25

  • c.1142-1G>A Multiple submitters PROM1-related disorder
  • c.1301+1G>A Multiple submitters
  • c.1301+2T>C Multiple submitters inherited retinal dystrophy
  • c.1578+1G>A Multiple submitters cone-rod dystrophy
  • c.1579-2A>C Multiple submitters PROM1-related disorder
  • c.2130+2del Multiple submitters PROM1-related disorder
  • c.2131-1G>A Multiple submitters PROM1-related disorder
  • c.784+2T>C Multiple submitters PROM1-related disorder
  • p.Ala643fs Multiple submitters inherited retinal dystrophy
  • p.Arg373Cys Multiple submitters PROM1-related disorder ⚠
  • p.Arg704Cys Multiple submitters PROM1-related disorder ⚠
  • p.Arg821Ter Multiple submitters inherited retinal dystrophy
  • p.Asn566fs Multiple submitters PROM1-related disorder
  • p.Gln218Ter Multiple submitters PROM1-related disorder
  • p.Gln619Ter Multiple submitters PROM1-related disorder
  • p.Gln675Ter Multiple submitters PROM1-related disorder
  • p.His47fs Multiple submitters cone-rod dystrophy 12
  • p.Ile52fs Multiple submitters retinal macular dystrophy type 2
  • p.Lys513fs Multiple submitters PROM1-related disorder
  • p.Lys769Ter Multiple submitters PROM1-related disorder
  • p.Thr208fs Multiple submitters PROM1-related disorder
  • p.Tyr412fs Multiple submitters PROM1-related disorder
  • p.Tyr452fs Multiple submitters retinal disorder
  • p.Tyr652Ter Multiple submitters retinitis pigmentosa 41
  • p.Leu793Ter No assertion criteria Stargardt disease 4

Likely pathogenic 59

Conflicting classifications of pathogenicity 98

Benign 41

Benign/Likely benign 11

Likely benign 309

Showing the top 300 by review status; the full set is in the sitemap.

Uncertain significance 620

Showing the top 300 by review status; the full set is in the sitemap.